Oculocerebrofacial syndrome, Kaufman type

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A rare genetic syndromic intellectual disability characterized by severe intellectual disability distinctive craniofacial features and variable multiple congenital anomalies including ocular brain urogenital and skeletal abnormalities.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Oculocerebrofacial syndrome, Kaufman type?

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